FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2099773194> ?p ?o ?g. }

• W2099773194 endingPage "6" @default.
• W2099773194 startingPage "1" @default.
• W2099773194 abstract "Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding sarcomere proteins. Mutations in MYL3, encoding the essential light chain of myosin, are rare and have been associated with sudden death. Both recessive and dominant patterns of inheritance have been suggested. We studied a large family with a 38-year-old asymptomatic HCM-affected male referred because of a murmur. The patient had HCM with left ventricular hypertrophy (max WT 21 mm), a resting left ventricular outflow gradient of 36 mm Hg, and left atrial dilation (54 mm). Genotyping revealed heterozygosity for a novel missense mutation, p.V79I, in MYL3. The mutation was not found in 300 controls, and the patient had no mutations in 10 sarcomere genes. Cascade screening revealed a further nine heterozygote mutation carriers, three of whom had ECG and/or echocardiographic abnormalities but did not fulfil diagnostic criteria for HCM. The penetrance, if we consider this borderline HCM the phenotype of the p.V79I mutation, was 40%, but the mean age of the nonpenetrant mutation carriers is 15, while the mean age of the penetrant mutation carriers is 47. The mutation affects a conserved valine replacing it with a larger isoleucine residue in the region of contact between the light chain and the myosin lever arm. In conclusion, MYL3 mutations can present with low expressivity and late onset." @default.
• W2099773194 created "2016-06-24" @default.
• W2099773194 creator A5006211041 @default.
• W2099773194 creator A5006851261 @default.
• W2099773194 creator A5019408422 @default.
• W2099773194 creator A5025202919 @default.
• W2099773194 creator A5046592412 @default.
• W2099773194 creator A5048710609 @default.
• W2099773194 creator A5074325811 @default.
• W2099773194 creator A5090562564 @default.
• W2099773194 date "2012-01-01" @default.
• W2099773194 modified "2023-09-27" @default.
• W2099773194 title "A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity" @default.
• W2099773194 cites W1482020310 @default.
• W2099773194 cites W1489130191 @default.
• W2099773194 cites W1894212022 @default.
• W2099773194 cites W1966093898 @default.
• W2099773194 cites W1973838961 @default.
• W2099773194 cites W1988639020 @default.
• W2099773194 cites W1991006980 @default.
• W2099773194 cites W1995697852 @default.
• W2099773194 cites W1995861006 @default.
• W2099773194 cites W2001603814 @default.
• W2099773194 cites W2004767153 @default.
• W2099773194 cites W2033105576 @default.
• W2099773194 cites W2044629144 @default.
• W2099773194 cites W2045962831 @default.
• W2099773194 cites W2052021933 @default.
• W2099773194 cites W2054143111 @default.
• W2099773194 cites W2054798545 @default.
• W2099773194 cites W2059145105 @default.
• W2099773194 cites W2061302189 @default.
• W2099773194 cites W2066545040 @default.
• W2099773194 cites W2069291846 @default.
• W2099773194 cites W2069953906 @default.
• W2099773194 cites W2073689756 @default.
• W2099773194 cites W2080580013 @default.
• W2099773194 cites W2085627013 @default.
• W2099773194 cites W2100381110 @default.
• W2099773194 cites W2105685804 @default.
• W2099773194 cites W2107704552 @default.
• W2099773194 cites W2111015914 @default.
• W2099773194 cites W2113513087 @default.
• W2099773194 cites W2116649734 @default.
• W2099773194 cites W2120717983 @default.
• W2099773194 cites W2123433024 @default.
• W2099773194 cites W2127423627 @default.
• W2099773194 cites W2153274079 @default.
• W2099773194 cites W2154663686 @default.
• W2099773194 cites W2155369569 @default.
• W2099773194 cites W2159790732 @default.
• W2099773194 cites W2163922877 @default.
• W2099773194 cites W2164379131 @default.
• W2099773194 cites W2170749595 @default.
• W2099773194 cites W2261397 @default.
• W2099773194 doi "https://doi.org/10.1155/2012/685108" @default.
• W2099773194 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3432877" @default.
• W2099773194 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22957257" @default.
• W2099773194 hasPublicationYear "2012" @default.
• W2099773194 type Work @default.
• W2099773194 sameAs 2099773194 @default.
• W2099773194 citedByCount "25" @default.
• W2099773194 countsByYear W20997731942012 @default.
• W2099773194 countsByYear W20997731942013 @default.
• W2099773194 countsByYear W20997731942014 @default.
• W2099773194 countsByYear W20997731942015 @default.
• W2099773194 countsByYear W20997731942016 @default.
• W2099773194 countsByYear W20997731942018 @default.
• W2099773194 countsByYear W20997731942019 @default.
• W2099773194 countsByYear W20997731942020 @default.
• W2099773194 countsByYear W20997731942021 @default.
• W2099773194 countsByYear W20997731942022 @default.
• W2099773194 countsByYear W20997731942023 @default.
• W2099773194 crossrefType "journal-article" @default.
• W2099773194 hasAuthorship W2099773194A5006211041 @default.
• W2099773194 hasAuthorship W2099773194A5006851261 @default.
• W2099773194 hasAuthorship W2099773194A5019408422 @default.
• W2099773194 hasAuthorship W2099773194A5025202919 @default.
• W2099773194 hasAuthorship W2099773194A5046592412 @default.
• W2099773194 hasAuthorship W2099773194A5048710609 @default.
• W2099773194 hasAuthorship W2099773194A5074325811 @default.
• W2099773194 hasAuthorship W2099773194A5090562564 @default.
• W2099773194 hasBestOaLocation W20997731941 @default.
• W2099773194 hasConcept C104317684 @default.
• W2099773194 hasConcept C125705527 @default.
• W2099773194 hasConcept C126322002 @default.
• W2099773194 hasConcept C127716648 @default.
• W2099773194 hasConcept C200544954 @default.
• W2099773194 hasConcept C207200792 @default.
• W2099773194 hasConcept C2776002628 @default.
• W2099773194 hasConcept C2778198053 @default.
• W2099773194 hasConcept C2778797674 @default.
• W2099773194 hasConcept C2780185194 @default.
• W2099773194 hasConcept C501734568 @default.
• W2099773194 hasConcept C54355233 @default.
• W2099773194 hasConcept C68731436 @default.
• W2099773194 hasConcept C71924100 @default.
• W2099773194 hasConcept C74581901 @default.

• next